Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency. 25655073

2015
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. 8845838

1996
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Muscle MRI in patients with long-chain fatty acid oxidation disorders. 24305961

2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. 26385305

2015
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518

1999
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518

1999
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. 17999356

2007
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827

1995
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR [Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency]. 26182500

2015
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 25214167

2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Next generation sequencing as a follow-up test in an expanded newborn screening programme. 29111448

2018
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. 8845838

1996
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. 23867825

2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827

1995
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. 12893739

2003
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. 20107901

2010
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. 23480858

2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. 23480858

2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. 26881790

2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene. 24263034

2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. 26453363

2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening. 25456746

2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency. 11914034

2002
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. 8554073

1996
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR The seven deficient fibroblast lines were characterized by measuring acyl-coenzyme A dehydrogenation activities, overall palmitic acid oxidation, and VLCAD protein synthesis using pulse-chase, further confirming the diagnosis of VLCAD deficiency. 7769092

1995